Rub epilepsy in an infant with Turner syndrome
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Published on: February 10, 2020
Shin-Ichi Magara1, Hideshi Kawashima1, Yu Kobayashi1
1Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
Insights
This study presents a rare infantile case of reflex epilepsy, specifically "rub epilepsy," linked to Turner syndrome (TS). The findings suggest a potential connection between parietal lobe abnormalities in TS and the development of epilepsy.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Turner syndrome (TS) is associated with neuroanatomical abnormalities, particularly in the parietal lobe.
- Epilepsy is a neurological disorder characterized by recurrent seizures.
- Reflex epilepsy is a subtype of epilepsy triggered by specific stimuli.
Abstract:
We report a case of infantile refractory epilepsy associated with Turner syndrome (TS), showing very frequent, focal clonic seizures of the left upper extremity. Characteristically, in addition to spontaneous fits, her seizure was inducible by rubbing her left hand and forearm for a few seconds. Accordingly, she was diagnosed with a rare form of reflex epilepsy, "rub epilepsy". Neuroradiological investigation indicated the existence of cortical abnormalities, such as focal cortical dysplasia of the right parietal lobe. Patients with TS are reported to have neuroanatomical abnormalities, especially of the parietal lobe. Thus, our case may imply a causal relationship between potential cortical hyperexcitability of the parietal lobe and epilepsy in TS. This is the first reported infantile case of rub epilepsy, and more generally, reflex epilepsy associated with TS.
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